Canonical Allele Identifier: CA383466440
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1329790649
gnomAD v2: 12-5154728-G-T
MyVariant Identifiers: chr12:g.5154728G>T (hg19) chr12:g.5045562G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045562G>T , CM000674.2:g.5045562G>T GRCh38
NC_000012.11:g.5154728G>T , CM000674.1:g.5154728G>T GRCh37
NC_000012.10:g.5024989G>T NCBI36
NG_012198.1:g.6644G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1415G>T MANE Select ENSP00000252321.3:p.Trp472Leu
ENST00000252321.4:c.1415G>T ENSP00000252321.3:p.Trp472Leu
NM_002234.3:c.1415G>T NP_002225.2:p.Trp472Leu
NM_002234.4:c.1415G>T MANE Select NP_002225.2:p.Trp472Leu
Search 100 bp 5'
Search 100 bp 3'